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Acute intermittent porphyria v1.5 HMBS Achchuthan Shanmugasundram Tag Q2_25_ MOI was removed from gene: HMBS.
Acute intermittent porphyria v1.5 HMBS Achchuthan Shanmugasundram commented on gene: HMBS
Acute intermittent porphyria v1.4 HMBS Achchuthan Shanmugasundram Mode of inheritance for gene HMBS was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Acute intermittent porphyria v1.3 HMBS Arina Puzriakova Tag Q2_25_expert_review was removed from gene: HMBS.
Acute intermittent porphyria v1.3 HMBS Sarah Leigh reviewed gene: HMBS: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Acute intermittent porphyria v1.3 HMBS Sarah Leigh Tag Q2_25_ MOI tag was added to gene: HMBS.
Tag Q2_25_expert_review tag was added to gene: HMBS.
Acute intermittent porphyria v1.3 HMBS Sarah Leigh Phenotypes for gene: HMBS were changed from to Porphyria, acute intermittent, nonerythroid variant, OMIM:176000; Porphyria, acute intermittent, OMIM:176000; acute intermittent porphyria, MONDO:0008294; Encephalopathy, porphyria-related, OMIM:620704; encephalopathy, porphyria-related, MONDO:0958224; Leukoencephalopathy, porphyria-related, OMIM: 620711
Acute intermittent porphyria v1.2 HMBS Sarah Leigh Publications for gene: HMBS were set to
Acute intermittent porphyria v1.1 HMBS Sharon Whatley reviewed gene: HMBS: Rating: GREEN; Mode of pathogenicity: None; Publications: 27539938, 38940544, 14262853, 1577472, 15534187, 14970743, 27558376, 31153822, 34089223; Phenotypes: 176000; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Acute intermittent porphyria v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
Acute intermittent porphyria v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Acute intermittent porphyria v0.10 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Acute intermittent porphyria v0.9 Achchuthan Shanmugasundram Panel status changed from internal to public
Acute intermittent porphyria v0.8 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease
Acute intermittent porphyria v0.6 Eleanor Williams Panel status changed from public to internal
Acute intermittent porphyria v0.5 Eleanor Williams Panel status changed from internal to public
Panel types changed to
Acute intermittent porphyria v0.4 HMBS Eleanor Williams edited their review of gene: HMBS: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Acute intermittent porphyria v0.4 HMBS Eleanor Williams changed review comment from: This gene has been added to the panel for R169 Acute intermittent porphyria with a green rating as agreed with the NHS Genomic Medicine Service.; to: HMBS has been added to the panel for R169 Acute intermittent porphyria with a green rating as agreed with the NHS Genomic Medicine Service.
Acute intermittent porphyria v0.4 HMBS Eleanor Williams commented on gene: HMBS
Acute intermittent porphyria v0.3 HMBS Eleanor Williams gene: HMBS was added
gene: HMBS was added to Acute intermittent porphyria. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: HMBS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Acute intermittent porphyria v0.1 Eleanor Williams Panel types changed to GMS Rare Disease
Acute intermittent porphyria v0.0 Eleanor Williams Added Panel Acute intermittent porphyria
Set list of related panels to R169